Detalles de la búsqueda
1.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artículo
Inglés
| MEDLINE | ID: mdl-33144682
2.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Hum Mutat
; 40(11): 2108-2120, 2019 11.
Artículo
Inglés
| MEDLINE | ID: mdl-31301155
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-36745126
4.
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Am J Med Genet A
; 164A(10): 2557-66, 2014 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-25123255
5.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Artículo
Inglés
| MEDLINE | ID: mdl-37088140
6.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Front Cell Dev Biol
; 10: 783762, 2022.
Artículo
Inglés
| MEDLINE | ID: mdl-35295849
7.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Artículo
Inglés
| MEDLINE | ID: mdl-33963192
8.
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
Am J Med Genet A
; 167(7): 1682-3, 2015 Jul.
Artículo
Inglés
| MEDLINE | ID: mdl-26097173
9.
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls.
Pediatrics
; 142(6)2018 12.
Artículo
Inglés
| MEDLINE | ID: mdl-30470723
10.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Cold Spring Harb Mol Case Stud
; 3(3): a001743, 2017 05.
Artículo
Inglés
| MEDLINE | ID: mdl-28487885
11.
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
Case Rep Neurol Med
; 2016: 7627289, 2016.
Artículo
Inglés
| MEDLINE | ID: mdl-28116189
Resultados
1 -
11
de 11
1
Próxima >
>>